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Results for "ZNF536"

Variant Events: 63

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
ZNF536     1-0488-003chr19:
31264536-31264536
AGintergenicDe novo--Yuen2017 G
ZNF536     1-0558-003chr19:
31483611-31483611
ACintergenicDe novo--Yuen2017 G
ZNF536     1-0393-003chr19:
30972782-30972782
CTintronicDe novo--Yuen2017 G
ZNF536     2-1283-004chr19:
30995678-30995678
GTintronicDe novo--Yuen2017 G
ZNF536     1-0757-003chr19:
31578127-31578132
AAGTTAAAGTTAGTTAintergenicDe novo--Yuen2017 G
ZNF536     1-0381-003chr19:
31410771-31410790
AAGGAGGAGGAGGAGGAGGAAAGGAGGAGGAGGAGGAintergenicDe novo--Yuen2017 G
ZNF536     2-1629-003chr19:
30889050-30889050
TCintronicDe novo--Yuen2017 G
ZNF536     AU0039303chr19:
31309792-31309792
GAintergenicDe novo--Yuen2017 G
ZNF536     2-1231-003chr19:
30949478-30949478
GCintronicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     AU2951303chr19:
31563413-31563413
TCintergenicDe novo--Yuen2017 G
ZNF536     2-1278-003chr19:
31716591-31716591
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     026-06-105556chr19:
31039424-31039424
GAexonicDe novosynonymous SNVNM_014717c.G2898Ap.R966R-8.264E-6Satterstrom2020 E
ZNF536     1-0338-003chr19:
31190327-31190327
AATintergenicDe novo--Yuen2017 G
ZNF536     2-1127-003chr19:
31136370-31136370
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     2-1127-003chr19:
31135588-31135588
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     2-1242-003chr19:
31394932-31394934
GAAGAAAGAAAintergenicDe novo--Yuen2017 G
ZNF536     2-1430-003chr19:
31134897-31134897
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     2-1605-004chr19:
31106899-31106899
GCintergenicDe novo--Yuen2017 G
ZNF536     13054.p1chr19:
31039805-31039805
CTexonicDe novosynonymous SNVNM_014717c.C3279Tp.S1093S-7.415E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ZNF536     2-1283-003chr19:
30995678-30995678
GTintronicDe novo--Yuen2017 G
ZNF536     AU2951302chr19:
31563413-31563413
TCintergenicDe novo--Yuen2017 G
ZNF536     AU3911301chr19:
30879766-30879766
GAintronicDe novo--Yuen2017 G
ZNF536     AU046706chr19:
31292326-31292329
TAAATAAintergenicDe novo--Yuen2017 G
ZNF536     2-1120-003chr19:
31181996-31181996
GAintergenicDe novo--Yuen2017 G
ZNF536     AU4237302chr19:
31643525-31643525
GCintergenicDe novo--Yuen2017 G
ZNF536     AU021204chr19:
31371120-31371120
CAintergenicDe novo--Yuen2017 G
ZNF536     AU072905chr19:
30988431-30988431
TCintronicDe novo--Yuen2017 G
ZNF536     11588.p1chr19:
31039705-31039706
ACAexonicDe novoframeshift deletionNM_014717c.3180delCp.N1060fs--Ji2016 E
Krumm2015 E
ZNF536     2-0033-003chr19:
31055919-31055919
CTintergenicDe novo--Yuen2017 G
ZNF536     2-1235-003chr19:
31586625-31586627
AACAintergenicDe novo--Yuen2017 G
ZNF536     SP0038516chr19:
31039670-31039670
GAexonicDe novosynonymous SNVNM_014717c.G3144Ap.A1048A--Feliciano2019 E
ZNF536     AU3997301chr19:
31284530-31284530
AGintergenicDe novo--Yuen2017 G
ZNF536     2-1268-003chr19:
31417810-31417810
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     2-1715-004chr19:
31420703-31420703
CTintergenicDe novo--Yuen2017 G
ZNF536     2-0320-003chr19:
31091708-31091708
GAintergenicDe novo--Yuen2017 G
ZNF536     AU4215302chr19:
31218724-31218724
CTintergenicDe novo--Yuen2017 G
ZNF536     1-0059-003chr19:
30976733-30976733
CGintronicDe novo--Yuen2017 G
ZNF536     5-0055-003chr19:
31358636-31358636
ACintergenicDe novo--Yuen2017 G
ZNF536     AU2950301chr19:
31690178-31690178
CTintergenicDe novo--Yuen2017 G
ZNF536     AU4483301chr19:
31744254-31744254
AGintergenicDe novo--Yuen2017 G
ZNF536     AU4129303chr19:
31749568-31749568
CTintergenicDe novo--Yuen2017 G
ZNF536     2-1195-003chr19:
31132576-31132576
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     AU4327303chr19:
30920178-30920178
GAintronicDe novo--Yuen2017 G
ZNF536     1-0325-003chr19:
31502863-31502863
GAintergenicDe novo--Yuen2017 G
ZNF536     AU3712301chr19:
31497263-31497263
AGintergenicDe novo--Yuen2017 G
ZNF536     2-1296-003chr19:
31130267-31130267
CGintergenicDe novo--Yuen2017 G
ZNF536     5-0017-003chr19:
31386883-31386883
CTintergenicDe novo--Yuen2017 G
ZNF536     AU4186302chr19:
31541866-31541866
GCintergenicDe novo--Yuen2017 G
ZNF536     1-0347-003chr19:
31328610-31328610
GCintergenicDe novo--Yuen2017 G
ZNF536     2-1335-004chr19:
31487653-31487653
TCintergenicDe novo--Yuen2017 G
ZNF536     2-1335-004chr19:
31203895-31203895
GAintergenicDe novo--Yuen2017 G
ZNF536     2-1731-003chr19:
30963970-30963970
GAintronicDe novo--Yuen2017 G
ZNF536     AU3517301chr19:
31141656-31141656
CTintergenicDe novo--Yuen2017 G
ZNF536     1-0385-003chr19:
31591629-31591629
GAintergenicDe novo--Yuen2017 G
ZNF536     AU4243302chr19:
30964566-30964566
GAintronicDe novo--Yuen2017 G
ZNF536     14015.p1chr19:
31221783-31221783
AGintergenicDe novo--Turner2016 G
ZNF536     13069.p1chr19:
31508318-31508318
AGintergenicDe novo--Turner2016 G
ZNF536     2-1329-003chr19:
31380123-31380123
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
ZNF536     13069.p1chr19:
31220771-31220771
CTintergenicDe novo--Turner2016 G
ZNF536     1-0338-005chr19:
31190327-31190327
AATintergenicDe novo--Yuen2017 G
ZNF536     AU2793303chr19:
31325849-31325849
CAintergenicDe novo--Yuen2017 G
ZNF536     2-1140-003chr19:
31574153-31574153
CTintergenicDe novo--Yuen2017 G
ZNF536     2-1329-003chr19:
31381490-31381490
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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